A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1567n100



Internal ID20153183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123634608..123694870hg38UCSC Ensembl
chr12:124119155..124179417hg19UCSC Ensembl
chr12:122685108..122745370hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860263
hg1960263
hg1860263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036843, nsv1043738, nsv1055052, nsv1037556, nsv1044734, nsv1046151, nsv1045476, nsv1053101
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1567n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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